G526R (p.Gly526Arg) variant of COL1A2 (Collagen alpha-2(I) chain)
G526R (p.Gly526Arg) in COL1A2 (Collagen alpha-2(I) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Cardiovascular phenotype; Osteogenesis imperfecta, perinatal lethal; Osteogenesi. The available variant effect predictions contribute to a CATVariant prioritization score of 0.98 / 1. The record also includes published literature and structural context.
G526R (p.Gly526Arg) variant details
- p.Gly526Arg
- rs72658129
- ClinGen CA162926587
- ClinVar RCV001823152
- ClinVar RCV002232602
- Pathogenic/Likely pathogenic
- Cardiovascular phenotype; Osteogenesis imperfecta, perinatal lethal; Osteogenesi
- Missense
- Variant Prioritization Score for Impact Estimate 0.98
- AlphaMissense 0.99
- MetaLR 0.98
- MetaSVM 1.04
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.95
- ClinVar: Pathogenic/Likely pathogenic (Cardiovascular phenotype; Osteogenesis imperfecta, perinatal let)
- EBI: Pathogenic (in OI2)
- UniProt: Pathogenic (in OI2)
- Structural context available
- Cited in: Classic Ehlers-Danlos Syndrome. (PMID 20301422)
- Cited in: COL1A1- and COL1A2-Related Osteogenesis Imperfecta. (PMID 20301472)